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Article

Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.

Human molecular genetics - 1 Apr 2016

Chung Chan, Puthanveetil Prasanth, Ory Daniel S, Lieberman Andrew P

Abstract excerpt

Niemann-Pick C1 (NPC) disease, an autosomal recessive lipid trafficking disorder caused by loss-of-function mutations in the NPC1 gene, is characterized by progressive neurodegeneration resulting in cognitive impairment, ataxia and early death. Little is known about the cellular pathways leading to neuron loss. Here, we studied the effects of diminishing expression of cystatin B, an endogenous inhibitor of...

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Source

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Identifiers

PMID: 26908626
DOI: 10.1093/hmg/ddw025
PMCID: PMC4787909

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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